Sentence examples for cases for mutations from inspiring English sources

This is the first study screening a sub-Saharan African cohort of apparently sporadic PD cases for mutations in genes commonly associated with PD.

The aim of the present study was to perform a thorough histological review of a series of lesions that were initially diagnosed as melanotic schwannoma and analyze these cases for mutations in the GNAQ gene.

Kijima et al. also examined the PHOX2B gene in 23 Japanese SIDS cases for mutations associated with the congenital central hypoventilation syndrome, also similarly characterized by autonomic dysfunction [ 35, 36].

We also screened additional index cases for mutations in the FANCD2 exons that contain the ATM phosphorylation (S222) and the FANCD2 monoubiquitination regions (K561), and the BRIP1/ BACH1 exons that contained the previously reported breast cancer-association variants, p. P47A and p. M299I.

In fact, direct sequencing of our 98 HBM cases for mutations affecting exons 2, 3 and 4 of LRP5 and the entire coding region of SOST have thus far identified causative mutations in only one individual [16], whose pQCT parameters lay within the HBM distribution as a whole.

It is likely that patients with tumors harboring NRAS mutations will also not benefit from anti-EGFR therapy, however, this remains to be proven which is also the case for mutations in the NRAS gene.

Two recent reports have demonstrated that mutations in exons 8 10 (which are present only in isoform A) are associated with a later onset of MODY than is the case for mutations in exons 1 7 (18 vs. 25 years, p = 0.0001 and 19 vs. 24 years, p = 0.03) [4], [4].

We are screening the RETT syndrome case for mutations in the MECP2 gene.

Mutations of the residues that contribute to inter-hemichannel interactions are associated with human diseases, as in the case for mutations of amino acid residues involved in interactions that stabilize connexin and connexon structures [ 18, 19].

PI cross-resistance is complex as a result of the large number of PI-resistance mutations and the fact that different mutations at the same position can have markedly different effects on PI susceptibility.[ 78] This is particularly the case for mutations at positions 50, 54 and 82.

To our knowledge, there are no reports on mutations in the genes coding for polyubiquitin-C and calmodulin-like protein 5 associated with the pathogenesis of AE, which could be a plausible explanation for their lower levels, as is the case for mutations in the human filaggrin gene 21.